Aliases for BFAR Gene

Aliases for BFAR Gene

  • Bifunctional Apoptosis Regulator 2 3 4 5
  • RNF47 2 3 4
  • BAR 2 3 4
  • RING Finger Protein 47 3 4
  • Bifunctional Apoptosis Inhibitor 3
  • BFAR 5

External Ids for BFAR Gene

Previous GeneCards Identifiers for BFAR Gene

  • GC16P014675
  • GC16M017798
  • GC16P014693

Summaries for BFAR Gene

GeneCards Summary for BFAR Gene

BFAR (Bifunctional Apoptosis Regulator) is a Protein Coding gene. Diseases associated with BFAR include Epulis and Digeorge Syndrome. Gene Ontology (GO) annotations related to this gene include structural molecule activity and protein binding, bridging.

UniProtKB/Swiss-Prot Summary for BFAR Gene

  • Apoptosis regulator. Has anti-apoptotic activity, both for apoptosis triggered via death-receptors and via mitochondrial factors.

Additional gene information for BFAR Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BFAR Gene

Genomics for BFAR Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BFAR Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BFAR on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BFAR

Top Transcription factor binding sites by QIAGEN in the BFAR gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • CBF-C
  • Nkx2-5
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • PPAR-alpha

Genomic Locations for BFAR Gene

Genomic Locations for BFAR Gene
chr16:14,632,831-14,669,236
(GRCh38/hg38)
Size:
36,406 bases
Orientation:
Plus strand
chr16:14,726,668-14,763,093
(GRCh37/hg19)
Size:
36,426 bases
Orientation:
Plus strand

Genomic View for BFAR Gene

Genes around BFAR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BFAR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BFAR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BFAR Gene

Proteins for BFAR Gene

  • Protein details for BFAR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZS9-BFAR_HUMAN
    Recommended name:
    Bifunctional apoptosis regulator
    Protein Accession:
    Q9NZS9
    Secondary Accessions:
    • A8K4Z9
    • B4DUT0
    • D3DUG8

    Protein attributes for BFAR Gene

    Size:
    450 amino acids
    Molecular mass:
    52738 Da
    Quaternary structure:
    • Interacts with CASP8, BCL2 and BCL2L1 through SAM domain and also with HIP1, IFT57, ESRRBL1 and BCAP31.

    Alternative splice isoforms for BFAR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BFAR Gene

Post-translational modifications for BFAR Gene

  • Glycosylation at Asn232
  • Ubiquitination at Lys82, Lys225, Lys247, Lys252, Lys261, Lys322, and Lys327
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for BFAR
  • Santa Cruz Biotechnology (SCBT) Antibodies for BFAR

No data available for DME Specific Peptides for BFAR Gene

Domains & Families for BFAR Gene

Gene Families for BFAR Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for BFAR Gene

InterPro:
Blocks:
  • Zn-finger, RING
  • Sterile alpha motif SAM
ProtoNet:

Suggested Antigen Peptide Sequences for BFAR Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58979, highly similar to Bifunctional apoptosis regulator (B4DUT0_HUMAN)
  • RING finger protein 47 (BFAR_HUMAN)
genes like me logo Genes that share domains with BFAR: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for BFAR Gene

Function for BFAR Gene

Molecular function for BFAR Gene

UniProtKB/Swiss-Prot Function:
Apoptosis regulator. Has anti-apoptotic activity, both for apoptosis triggered via death-receptors and via mitochondrial factors.
GENATLAS Biochemistry:
potential adhesion receptor,putatively involved in neural crest cells migration,close (10kb) to the ADU breakpoint in DiGeorge syndrome,(?same as LAN1,IDD)

Phenotypes From GWAS Catalog for BFAR Gene

Gene Ontology (GO) - Molecular Function for BFAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 21068390
GO:0030674 protein binding, bridging IDA 10716992
GO:0046872 metal ion binding IEA --
GO:0061630 ubiquitin protein ligase activity IDA 21068390
GO:0089720 caspase binding IDA 10716992
genes like me logo Genes that share ontologies with BFAR: view
genes like me logo Genes that share phenotypes with BFAR: view

Animal Model Products

  • Taconic Biosciences Mouse Models for BFAR

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BFAR

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BFAR Gene

Localization for BFAR Gene

Subcellular locations from UniProtKB/Swiss-Prot for BFAR Gene

Endoplasmic reticulum membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BFAR gene
Compartment Confidence
plasma membrane 4
endoplasmic reticulum 4
nucleus 3
extracellular 1
cytoskeleton 1
mitochondrion 1
cytosol 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for BFAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 21068390
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005887 integral component of plasma membrane NAS 10716992
GO:0016020 membrane IEA,IDA 10716992
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with BFAR: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BFAR Gene

Pathways & Interactions for BFAR Gene

PathCards logo

SuperPathways for BFAR Gene

No Data Available

SIGNOR curated interactions for BFAR Gene

Inactivates:

Gene Ontology (GO) - Biological Process for BFAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IDA 21068390
GO:0006511 ubiquitin-dependent protein catabolic process IDA 21068390
GO:0006915 apoptotic process IEA --
GO:0043066 negative regulation of apoptotic process IDA 10716992
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IDA 21068390
genes like me logo Genes that share ontologies with BFAR: view

No data available for Pathways by source for BFAR Gene

Drugs & Compounds for BFAR Gene

No Compound Related Data Available

Transcripts for BFAR Gene

mRNA/cDNA for BFAR Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BFAR

Alternative Splicing Database (ASD) splice patterns (SP) for BFAR Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b
SP1: -
SP2: - - - - - - -
SP3: - - - - -
SP4: - - - - - - - - - -
SP5: - -
SP6: - - - - -
SP7: - -
SP8: - - - - -
SP9: - - - - - - - -
SP10: -

Relevant External Links for BFAR Gene

GeneLoc Exon Structure for
BFAR

Expression for BFAR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BFAR Gene

Protein differential expression in normal tissues from HIPED for BFAR Gene

This gene is overexpressed in CD4 Tcells (60.1) and Heart (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BFAR Gene



Protein tissue co-expression partners for BFAR Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BFAR

SOURCE GeneReport for Unigene cluster for BFAR Gene:

Hs.435556

mRNA Expression by UniProt/SwissProt for BFAR Gene:

Q9NZS9-BFAR_HUMAN
Tissue specificity: Expressed highly in brain, moderately in small intestine, weakly in testes and only faintly in liver and skeletal muscle. Not expressed in heart, kidney, lung and spleen.

Evidence on tissue expression from TISSUES for BFAR Gene

  • Intestine(5)
  • Lung(4.3)
  • Nervous system(3.8)
  • Skin(2.7)
  • Muscle(2)
genes like me logo Genes that share expression patterns with BFAR: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for BFAR Gene

Orthologs for BFAR Gene

This gene was present in the common ancestor of chordates.

Orthologs for BFAR Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia BFAR 30 31
  • 99.63 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia BFAR 30 31
  • 89.93 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BFAR 30 31
  • 88.89 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia BFAR 31
  • 87 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Bfar 30
  • 86.59 (n)
Mouse
(Mus musculus)
Mammalia Bfar 30 17 31
  • 86.52 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 79 (a)
OneToMany
-- 31
  • 72 (a)
OneToMany
Chicken
(Gallus gallus)
Aves BFAR 30 31
  • 75.82 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia BFAR 31
  • 74 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia bfar 30
  • 72.88 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.2931 30
Species where no ortholog for BFAR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for BFAR Gene

ENSEMBL:
Gene Tree for BFAR (if available)
TreeFam:
Gene Tree for BFAR (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BFAR: view image

Paralogs for BFAR Gene

(10) SIMAP similar genes for BFAR Gene using alignment to 9 proteins:

  • BFAR_HUMAN
  • B4DUT0_HUMAN
  • H3BMP2_HUMAN
  • H3BMY8_HUMAN
  • H3BPQ8_HUMAN
  • H3BRQ5_HUMAN
  • H3BSU2_HUMAN
  • H3BTG6_HUMAN
  • H3BUB3_HUMAN
genes like me logo Genes that share paralogs with BFAR: view

No data available for Paralogs for BFAR Gene

Variants for BFAR Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BFAR Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
776979 Benign: not provided 14,655,161(+) G/A MISSENSE_VARIANT
rs11546303 - p.Met140Arg
rs35377618 - p.Arg245His

Additional dbSNP identifiers (rs#s) for BFAR Gene

Structural Variations from Database of Genomic Variants (DGV) for BFAR Gene

Variant ID Type Subtype PubMed ID
dgv2738n100 CNV gain 25217958
esv2758632 CNV gain+loss 17122850
nsv1134503 CNV deletion 24896259
nsv1138416 CNV deletion 24896259
nsv1740 CNV deletion 18451855
nsv833144 CNV gain 17160897

Variation tolerance for BFAR Gene

Residual Variation Intolerance Score: 47.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.62; 86.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BFAR Gene

Human Gene Mutation Database (HGMD)
BFAR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BFAR

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BFAR Gene

Disorders for BFAR Gene

MalaCards: The human disease database

(2) MalaCards diseases for BFAR Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
epulis
  • epulides
digeorge syndrome
  • cayler cardiofacial syndrome
- elite association - COSMIC cancer census association via MalaCards
Search BFAR in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BFAR

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with BFAR: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BFAR Gene

Publications for BFAR Gene

  1. Bifunctional apoptosis inhibitor (BAR) protects neurons from diverse cell death pathways. (PMID: 14502241) Roth W … Reed JC (Cell death and differentiation 2003) 3 4 23
  2. BAR: An apoptosis regulator at the intersection of caspases and Bcl-2 family proteins. (PMID: 10716992) Zhang H … Reed JC (Proceedings of the National Academy of Sciences of the United States of America 2000) 2 3 4
  3. Association study of complement factor H, C2, CFB, and C3 and age-related macular degeneration in a Han Chinese population. (PMID: 20523265) Liu X … Yang Z (Retina (Philadelphia, Pa.) 2010) 3 41
  4. Over-expression of a modified bifunctional apoptosis regulator protects against cardiac injury and doxorubicin-induced cardiotoxicity in transgenic mice. (PMID: 18805781) Chua CC … Chua BH (Cardiovascular research 2009) 3 23
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for BFAR Gene

Sources for BFAR Gene